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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 1-228107682-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=228107682&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MRPL55",
"hgnc_id": 16686,
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Arg108Trp",
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_181462.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 48,
"alphamissense_prediction": null,
"alphamissense_score": 0.1728,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.18,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.764379620552063,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 128,
"aa_ref": "R",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 738,
"cdna_start": 490,
"cds_end": null,
"cds_length": 387,
"cds_start": 214,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_181463.3",
"gene_hgnc_id": 16686,
"gene_symbol": "MRPL55",
"hgvs_c": "c.214C>T",
"hgvs_p": "p.Arg72Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000336520.8",
"protein_coding": true,
"protein_id": "NP_852128.1",
"strand": false,
"transcript": "NM_181463.3",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 128,
"aa_ref": "R",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 738,
"cdna_start": 490,
"cds_end": null,
"cds_length": 387,
"cds_start": 214,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000336520.8",
"gene_hgnc_id": 16686,
"gene_symbol": "MRPL55",
"hgvs_c": "c.214C>T",
"hgvs_p": "p.Arg72Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_181463.3",
"protein_coding": true,
"protein_id": "ENSP00000337342.3",
"strand": false,
"transcript": "ENST00000336520.8",
"transcript_support_level": 2
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 164,
"aa_ref": "R",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 705,
"cdna_start": 451,
"cds_end": null,
"cds_length": 495,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000366738.5",
"gene_hgnc_id": 16686,
"gene_symbol": "MRPL55",
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Arg108Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355699.1",
"strand": false,
"transcript": "ENST00000366738.5",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 128,
"aa_ref": "R",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1212,
"cdna_start": 958,
"cds_end": null,
"cds_length": 387,
"cds_start": 214,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000366735.5",
"gene_hgnc_id": 16686,
"gene_symbol": "MRPL55",
"hgvs_c": "c.214C>T",
"hgvs_p": "p.Arg72Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355696.1",
"strand": false,
"transcript": "ENST00000366735.5",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 128,
"aa_ref": "R",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 565,
"cdna_start": 311,
"cds_end": null,
"cds_length": 387,
"cds_start": 214,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000366746.7",
"gene_hgnc_id": 16686,
"gene_symbol": "MRPL55",
"hgvs_c": "c.214C>T",
"hgvs_p": "p.Arg72Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355707.3",
"strand": false,
"transcript": "ENST00000366746.7",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 128,
"aa_ref": "R",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 603,
"cdna_start": 349,
"cds_end": null,
"cds_length": 387,
"cds_start": 214,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000366747.7",
"gene_hgnc_id": 16686,
"gene_symbol": "MRPL55",
"hgvs_c": "c.214C>T",
"hgvs_p": "p.Arg72Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355708.3",
"strand": false,
"transcript": "ENST00000366747.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 55,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1423,
"cdna_start": null,
"cds_end": null,
"cds_length": 168,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000366731.9",
"gene_hgnc_id": 16686,
"gene_symbol": "MRPL55",
"hgvs_c": "c.-6C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355692.6",
"strand": false,
"transcript": "ENST00000366731.9",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 55,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 722,
"cdna_start": null,
"cds_end": null,
"cds_length": 168,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000366732.5",
"gene_hgnc_id": 16686,
"gene_symbol": "MRPL55",
"hgvs_c": "c.-6C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355693.2",
"strand": false,
"transcript": "ENST00000366732.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 55,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 694,
"cdna_start": null,
"cds_end": null,
"cds_length": 168,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000459783.5",
"gene_hgnc_id": 16686,
"gene_symbol": "MRPL55",
"hgvs_c": "c.-6C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000482290.1",
"strand": false,
"transcript": "ENST00000459783.5",
"transcript_support_level": 5
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 164,
"aa_ref": "R",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 846,
"cdna_start": 598,
"cds_end": null,
"cds_length": 495,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_181462.3",
"gene_hgnc_id": 16686,
"gene_symbol": "MRPL55",
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Arg108Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_852127.2",
"strand": false,
"transcript": "NM_181462.3",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 164,
"aa_ref": "R",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 864,
"cdna_start": 611,
"cds_end": null,
"cds_length": 495,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000430433.5",
"gene_hgnc_id": 16686,
"gene_symbol": "MRPL55",
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Arg108Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000403614.1",
"strand": false,
"transcript": "ENST00000430433.5",
"transcript_support_level": 5
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 164,
"aa_ref": "R",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 735,
"cdna_start": 489,
"cds_end": null,
"cds_length": 495,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000877035.1",
"gene_hgnc_id": 16686,
"gene_symbol": "MRPL55",
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Arg108Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547094.1",
"strand": false,
"transcript": "ENST00000877035.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_length": 164,
"aa_ref": "R",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 847,
"cdna_start": 601,
"cds_end": null,
"cds_length": 495,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000877036.1",
"gene_hgnc_id": 16686,
"gene_symbol": "MRPL55",
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Arg108Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547095.1",
"strand": false,
"transcript": "ENST00000877036.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 164,
"aa_ref": "R",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 732,
"cdna_start": 486,
"cds_end": null,
"cds_length": 495,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000877040.1",
"gene_hgnc_id": 16686,
"gene_symbol": "MRPL55",
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Arg108Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547099.1",
"strand": false,
"transcript": "ENST00000877040.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 164,
"aa_ref": "R",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 859,
"cdna_start": 621,
"cds_end": null,
"cds_length": 495,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000877055.1",
"gene_hgnc_id": 16686,
"gene_symbol": "MRPL55",
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Arg108Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547114.1",
"strand": false,
"transcript": "ENST00000877055.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 164,
"aa_ref": "R",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1258,
"cdna_start": 1014,
"cds_end": null,
"cds_length": 495,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000927950.1",
"gene_hgnc_id": 16686,
"gene_symbol": "MRPL55",
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Arg108Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598009.1",
"strand": false,
"transcript": "ENST00000927950.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 164,
"aa_ref": "R",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 884,
"cdna_start": 636,
"cds_end": null,
"cds_length": 495,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000927953.1",
"gene_hgnc_id": 16686,
"gene_symbol": "MRPL55",
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Arg108Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598012.1",
"strand": false,
"transcript": "ENST00000927953.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_length": 164,
"aa_ref": "R",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 774,
"cdna_start": 528,
"cds_end": null,
"cds_length": 495,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000927958.1",
"gene_hgnc_id": 16686,
"gene_symbol": "MRPL55",
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Arg108Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598017.1",
"strand": false,
"transcript": "ENST00000927958.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 164,
"aa_ref": "R",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 890,
"cdna_start": 645,
"cds_end": null,
"cds_length": 495,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000927968.1",
"gene_hgnc_id": 16686,
"gene_symbol": "MRPL55",
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Arg108Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598027.1",
"strand": false,
"transcript": "ENST00000927968.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 164,
"aa_ref": "R",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 779,
"cdna_start": 533,
"cds_end": null,
"cds_length": 495,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000927982.1",
"gene_hgnc_id": 16686,
"gene_symbol": "MRPL55",
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Arg108Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598041.1",
"strand": false,
"transcript": "ENST00000927982.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 164,
"aa_ref": "R",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1350,
"cdna_start": 1113,
"cds_end": null,
"cds_length": 495,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000957207.1",
"gene_hgnc_id": 16686,
"gene_symbol": "MRPL55",
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Arg108Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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